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Find video protocols related to scientific articles indexed in Pubmed.
Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues.
J Med Ethics
PUBLISHED: 07-20-2014
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The introduction of new sequencing technologies whole-genome sequencing (WGS) and whole-exome sequencing (WES) that are much less finely targeted than previous genetic tests has resulted in ethical debate about what should be done with clinically significant findings that may arise during the sequencing process. In this piece we argue that, in addition to whether the finding has been intentionally sought or arises incidentally, the ethical issues concerning what should be done with WES and WGS findings are also influenced by whether sequencing occurs in a clinical or research setting. We argue that decisions about the disclosure of WGS and WES findings generated in the clinical context are much less ethically contentious than decision making about the feedback of research results. We conclude by calling for greater transparency about the purpose of sample collection, more explicit protocols for transitioning between research and clinical contexts and patients and research participants to be warned of the potential for incidental findings to be generated, their potential significance and the actions that might be taken as a result.
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Considerations in establishing a post-mortem brain and tissue bank for the study of myalgic encephalomyelitis/chronic fatigue syndrome: a proposed protocol.
BMC Res Notes
PUBLISHED: 06-02-2014
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Our aim, having previously investigated through a qualitative study involving extensive discussions with experts and patients the issues involved in establishing and maintaining a disease specific brain and tissue bank for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), was to develop a protocol for a UK ME/CFS repository of high quality human tissue from well characterised subjects with ME/CFS and controls suitable for a broad range of research applications. This would involve a specific donor program coupled with rapid tissue collection and processing, supplemented by comprehensive prospectively collected clinical, laboratory and self-assessment data from cases and controls.
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Life insurance: genomic stratification and risk classification.
Eur. J. Hum. Genet.
PUBLISHED: 10-16-2013
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With the development and increasing accessibility of new genomic tools such as next-generation sequencing, genome-wide association studies, and genomic stratification models, the debate on genetic discrimination in the context of life insurance became even more complex, requiring a review of current practices and the exploration of new scenarios. In this perspective, a multidisciplinary group of international experts representing different interests revisited the genetics and life insurance debate during a 2-day symposium Life insurance: breast cancer research and genetic risk prediction seminar held in Quebec City, Canada on 24 and 25 September 2012. Having reviewed the current legal, social, and ethical issues on the use of genomic information in the context of life insurance, the Expert Group identified four main questions: (1) Have recent developments in genomics and related sciences changed the contours of the genetics and life insurance debate? (2) Are genomic results obtained in a research context relevant for life insurance underwriting? (3) Should predictive risk assessment and risk stratification models based on genomic data also be used for life insurance underwriting? (4) What positive actions could stakeholders in the debate take to alleviate concerns over the use of genomic information by life insurance underwriters? This paper presents a summary of the discussions and the specific action items recommended by the Expert Group.European Journal of Human Genetics advance online publication, 16 October 2013; doi:10.1038/ejhg.2013.228.
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Public health implications from COGS and potential for risk stratification and screening.
Nat. Genet.
PUBLISHED: 03-29-2013
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The PHG Foundation led a multidisciplinary program, which used results from COGS research identifying genetic variants associated with breast, ovarian and prostate cancers to model risk-stratified prevention for breast and prostate cancers. Implementing such strategies would require attention to the use and storage of genetic information, the development of risk assessment tools, new protocols for consent and programs of professional education and public engagement.
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Prediction of invasive candidal infection in critically ill patients with severe acute pancreatitis.
Crit Care
PUBLISHED: 03-08-2013
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INTRODUCTION: Patients with severe acute pancreatitis are at risk of candidal infections carrying the potential risk of an increase in mortality. Since early diagnosis is problematic, several clinical risk scores have been developed to identify patients at risk. Such patients may benefit from prophylactic antifungal therapy while those patients who have a low risk of infection may not benefit and may be harmed. The aim of this study was to assess the validity and discrimination of existing risk scores for invasive candidal infections in patients with severe acute pancreatitis. METHODS: Patients admitted with severe acute pancreatitis to the intensive care unit were analysed. Outcomes and risk factors of admissions with and without candidal infection were compared. Accuracy and discrimination of three existing risk scores for the development of invasive candidal infection (Candida score, Candida Colonisation Index Score and the Invasive Candidiasis Score) were assessed. RESULTS: A total of 101 patients were identified from 2003 to 2011 and 18 (17.8%) of these developed candidal infection. Thirty patients died, giving an overall hospital mortality of 29.7%. Hospital mortality was significantly higher in patients with candidal infection (55.6% compared to 24.1%, P = 0.02). Candida colonisation was associated with subsequent candidal infection on multivariate analysis. The Candida Colonisation Index Score was the most accurate test, with specificity of 0.79 (95% confidence interval [CI] 0.68 to 0.88), sensitivity of 0.67 (95% CI 0.41 to 0.87), negative predictive value of 0.91 (95% CI 0.82 to 0.97) and a positive likelihood ratio of 3.2 (95% CI 1.9 to 5.5). The Candida Colonisation Index Score showed the best discrimination with area under the receiver operating characteristic curve of 0.79 (95% CI 0.69 to 0.87). CONCLUSIONS: In this study the Candida Colonisation Index Score was the most accurate and discriminative test at identifying which patients with severe acute pancreatitis are at risk of developing candidal infection. However its low sensitivity may limit its clinical usefulness.
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What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer?
J Med Ethics
PUBLISHED: 03-01-2013
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Increased knowledge of the gene-disease associations contributing to common cancer development raises the prospect of population stratification by genotype and other risk factors. Individual risk assessments could be used to target interventions such as screening, treatment and health education. Genotyping neonates, infants or young children as part of a systematic programme would improve coverage and uptake, and facilitate a screening package that maximises potential benefits and minimises harms including overdiagnosis. This paper explores the potential justifications and risks of genotyping children for genetic variants associated with common cancer development within a personalised screening programme. It identifies the ethical and legal principles that might guide population genotyping where the predictive value of the testing is modest and associated risks might arise in the future, and considers the standards required by population screening programme validity measures (such as the Wilson and Jungner criteria including cost-effectiveness and equitable access). These are distinguished from the normative principles underpinning predictive genetic testing of children for adult-onset diseases-namely, to make best-interests judgements and to preserve autonomy. While the case for population-based genotyping of neonates or young children has not yet been made, the justifications for this approach are likely to become increasingly compelling. A modified evaluative and normative framework should be developed, capturing elements from individualistic and population-based approaches. This should emphasise proper communication and genuine parental consent or informed choice, while recognising the challenges associated with making unsolicited approaches to an asymptomatic group. Such a framework would be strengthened by complementary empirical research.
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Incorporating genomics into breast and prostate cancer screening: assessing the implications.
Genet. Med.
PUBLISHED: 02-14-2013
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Individual risk prediction and stratification based on polygenic profiling may be useful in disease prevention. Risk-stratified population screening based on multiple factors including a polygenic risk profile has the potential to be more efficient than age-stratified screening. In this article, we summarize the implications of personalized screening for breast and prostate cancers. We report the opinions of multidisciplinary international experts who have explored the scientific, ethical, and logistical aspects of stratified screening. We have identified (i) the need to recognize the benefits and harms of personalized screening as compared with existing screening methods, (ii) that the use of genetic data highlights complex ethical issues including discrimination against high-risk individuals by insurers and employers and patient autonomy in relation to genetic testing of minors, (iii) the need for transparency and clear communication about risk scores, about harms and benefits, and about reasons for inclusion and exclusion from the risk-based screening process, and (iv) the need to develop new professional competences and to assess cost-effectiveness and acceptability of stratified screening programs before implementation. We conclude that health professionals and stakeholders need to consider the implications of incorporating genetic information in intervention strategies for health-care planning in the future.
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Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.
Hum. Mutat.
PUBLISHED: 01-07-2013
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High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating informed consent for NGS in diagnostics from a multidisciplinary point of view. By exploring recent similar experiences with unsolicited findings in other settings, an attempt is made to describe what can be learned so far for implementing NGS in standard genetic diagnostics. The article concludes with a set of points to consider in order to guide decision-making on the extent of return of results in relation to the mode of informed consent. We hereby aim to provide a sound basis for developing guidelines for optimizing the informed consent procedure.
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Regulating direct-to-consumer genetic tests: what is all the fuss about?
Genet. Med.
PUBLISHED: 08-04-2011
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The number of genetic tests available direct-to-consumer has burgeoned over the last few years, prompting numerous calls for tighter regulation of these services. However, there is a lack of consensus about the most appropriate and achievable level of regulation, particularly given the global nature of the market. By consideration of potential for direct and indirect harms caused by genetic susceptibility or genomic profiling tests, in this study we offer an overarching framework that we believe to be feasible for the regulation of direct-to-consumer genetic tests and likely to be relevant to other forms of predictive testing. We suggest that just five key requirements would adequately protect the consumer: a proportionate set of consent procedures; formal laboratory accreditation; evidence of a valid gene-disease association; appropriately qualified staff to interpret the test result; and consumer protection legislation to prevent false or misleading claims.
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Extending the reach of public health genomics: what should be the agenda for public health in an era of genome-based and “personalized” medicine?
Genet. Med.
PUBLISHED: 12-30-2010
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The decade following the completion of the Human Genome Project has been marked by divergent claims about the utility of genomics for improving population health. On the one hand, genomics is viewed as the harbinger of a brave new world in which novel treatments rectify known causes of disease. On the other hand, genomics may have little practical relevance to the principal causes or remedies of diseases which are predominantly social or environmental in origin, particularly in low- and middle-income countries. Those supportive of a role for public health genomics argue that increasing knowledge of genomics and molecular pathology could unlock effective diagnostic techniques and treatments, and better target public health interventions. To resolve some of these tensions, an international multidisciplinary meeting was held in May 2010 in Ickworth, United Kingdom, with the aim of setting an agenda for the development of public health in an era of genome-based and "personalized" medicine. A number of key themes emerged, suggesting a need to reconfigure both the focus for existing genomic research and the stage at which funding is targeted, so that priority is given to areas of greatest potential health impact and that translation from basic science to implementation is given greater emphasis. To support these developments, there should be an immediate, sustained and systematic effort to provide an evidence base. These deliberations formed the basis for six key recommendations, which could guide the practice of public health in an era of genomics and personalized medicine.
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Legal and ethical implications of inherited cardiac disease in clinical practice within the UK.
J Med Ethics
PUBLISHED: 11-30-2010
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Increasing genetic knowledge over the last decade has enabled hundreds of genetic variants associated with inherited cardiac conditions to be identified, many of which cause increased risk of sudden cardiac death. While individually these conditions are rare, taken together they impose a significant burden. The severity of these conditions--the possibility that they might cause sudden unheralded death of a teenager or young adult--juxtaposed with uncertainty about the pathology linked with many of the genetic variants is significant in terms of professional practice because, increasingly, clinicians have been encouraged to cascade out genetic testing from the proband or consultand to other family members who may be at risk of developing the same condition. This process often involves sharing human tissue samples, DNA or personal information. This paper reviews the legal and regulatory frameworks which may apply when tissue and DNA samples are collected, used and retained, both for the purpose of diagnosis and for benefiting other family members, when a suspected or definitive diagnosis of an inherited cardiovascular condition is made. Sometimes the interests of family members may conflict, and it may be difficult for practitioners to reconcile the interests of one family member with another, particularly if the balance of benefits and harms from testing is unclear. The paper then examines some of the ethical tensions which may arise in practice and concludes that all involved should be conversant with the legal and ethical frameworks that apply.
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The challenge of promoting safe sex at sites where persons meet new sex partners in Jamaica: results of the Kingston PLACE randomized controlled trial.
Trop. Med. Int. Health
PUBLISHED: 06-09-2010
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To determine whether a site-based Priorities for Local AIDS Control Efforts (PLACE) HIV prevention intervention in Kingston, Jamaica increased condom use among persons with new or multiple sex partners.
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Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications.
Public Health Genomics
PUBLISHED: 04-15-2010
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Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service.
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Delayed activin A administration attenuates tissue death after transient focal cerebral ischemia and is associated with decreased stress-responsive kinase activation.
J. Neurochem.
PUBLISHED: 09-24-2009
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Focal cerebral ischemia and reperfusion initiates complex cellular and molecular interactions that lead to either cell repair or destruction. In earlier work, we found that activin A is an early gene response to cerebral ischemia and supports cortical neuron survival in vitro. In this study, the ability of exogenous activin A to attenuate injury from transient middle cerebral artery occlusion was tested in adult mice. Intracerebroventricular administration of activin A prior to middle cerebral artery occlusion reduced infarct volume apparent 1 day after experimental stroke. A single activin A administration at 6 h following ischemia/reperfusion reduced lesion volumes at 1 and 3 days and led to improved neurobehavior. Moreover, activin A treatment spared neurons within the ischemic hemisphere and led to a concomitant reduction in microglial activation. Activation of the stress-responsive kinases p38 and c-jun N-terminal kinase implicated in neuronal apoptosis after stroke was reduced following activin A treatment. Together these findings suggest that activin A promotes tissue survival after focal cerebral ischemia/reperfusion with an extended therapeutic window.
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Stability and intra-tester reliability of an in vivo measurement of thoracic axial rotation using an innovative methodology.
Man Ther
PUBLISHED: 09-17-2009
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The aim of this study was to evaluate the stability and intra-tester reliability of an innovative approach to measure active thoracic spine axial rotation. Ultrasound imaging of a thoracic vertebra in conjunction with Polhemus motion analysis of the transducer was used to measure axial thoracic spine rotation in a functional position. The range of motion in a convenience sample of asymptomatic subjects (n=24) was calculated across ten repetitions of a single trial to evaluate stability. The protocol was repeated the same day and 7-10 days later to provide data for within and between day intra-tester reliability. Mean total range of axial rotation was 85.15 degrees across a single trial with SD=14.8, CV=17.4, SEM=3.04. SEM ranged 0.63-3.37 for individual subjects and 2.60-3.64 across repetitions. Stability of performance occurred at repetitions 2-4. Intra-tester reliability (ICC(2,1)) was excellent within day (0.89-0.98) and good/excellent between days (0.720.94). Bland-Altman plots however suggest that agreement may range from 0 to 10% for within day measures and from 0 to 15% for between day measures. Whether this combined approach has sufficient precision and accuracy as a clinical research tool has yet to be fully evaluated.
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Frequency of signs of excited delirium syndrome in subjects undergoing police use of force: Descriptive evaluation of a prospective, consecutive cohort.
J Forensic Leg Med
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There has, to date, been no prospective description of the frequency with which police officers encounter individuals who display signs of excited delirium syndrome (ExDS). The ability to document the relationship between signs of excited delirium and subject outcomes and then determine the underlying pathophysiology that results in morbidity and mortality is necessary in order to determine the case definition for ExDS in live individuals. We prospectively evaluated the frequency of signs of ExDS in a cohort of consecutive subjects undergoing use of force by law enforcement officers (LEOs) and determined the frequency with which those features were encountered alone and in combination. Data were collected prospectively for all subjects undergoing use of force (UOF) by LEOs in a single police agency from August 2006 until August 2009. Ten previously published signs of ExDS were prospectively recorded by officers: pain tolerance, constant/near constant physical activity, not responding to police presence, superhuman strength, rapid breathing, not tiring despite heavy physical exertion, naked/inappropriately clothed, sweating profusely, hot to the touch, and attraction to/destruction of glass/reflective surfaces. UOF occurred in 1269 of 1.56 million police-public interactions (0.08%, 95% CI 0.08, 0.086). Of subjects undergoing police use of force, 1101/1269 or 86.8% (95% CI 84.8%, 88.6%) were assessed as having effects of emotional disturbance, drugs, alcohol or a combination of these comorbidities at the scene at the time of the UOF and 837/1269 or 66% (95% CI 63.3, 68.6) were violent at the time of the UOF. Excluding violence, 655/1269 (51.6% 95% CI 48.8, 54.4) had no signs of ExDS at the time of UOF and another 405/1269 (31.9% 95% CI 29.4, 34.6%)) had only one or two signs of ExDS at the time of UOF. The remaining 209/1269 (16.5%, 95% CI 14.5, 18.6) had 3 or more concomitant signs of ExDS at the time of UOF. One person died in our cohort who was experiencing 10 concomitant features of ExDS at the time of the UOF event. With only one death in our 3 year prospective cohort, we cannot comment on causality or correlation between number of Excited Delirium signs and mortality. Further study must be undertaken to determine whether correlation exists between higher numbers of ExDS signs and physiologic measures of acute underlying pathology in live subjects.
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Polyarticular sonographic assessment of gout: a hospital-based cross-sectional study.
Joint Bone Spine
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To assess the sonographic frequency of synovial effusion, synovial hypertrophy, synovitis, and double contour sign at joints commonly affected by gout and whether these features differ according to serum urate levels, disease duration, and use of urate-lowering therapy.
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Informatics and clinical genome sequencing: opening the black box.
Genet. Med.
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Adoption of whole-genome sequencing as a routine biomedical tool is dependent not only on the availability of new high-throughput sequencing technologies, but also on the concomitant development of methods and tools for data collection, analysis, and interpretation. It would also be enormously facilitated by the development of decision support systems for clinicians and consideration of how such information can best be incorporated into care pathways. Here we present an overview of the data analysis and interpretation pipeline, the wider informatics needs, and some of the relevant ethical and legal issues.
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Multiorgan dysfunction caused by travel-associated African trypanosomiasis.
Emerging Infect. Dis.
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We describe a case of multiorgan dysfunction secondary to Trypanosoma brucei rhodesiense infection acquired on safari in Zambia. This case was one of several recently reported to ProMED-mail in persons who had traveled to this region. Trypanosomiasis remains rare in travelers but should be considered in febrile patients who have returned from trypanosomiasis-endemic areas of Africa.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

How does it work?

We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

Video X seems to be unrelated to Abstract Y...

In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.